Myotonic Dystrophy 1 (DMPK) genetic testing (repeat expansion)

Alphabetical Test listing

Myotonic Dystrophy 1 (DMPK) genetic testing (repeat expansion)-994

  
Myotonic Dystrophy 1 (DMPK) genetic testing (repeat expansion)
  
994
  
LAB994
  
MSO
  
DMPK repeat expansion
  

Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases in the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells.

  
EDTA whole blood
  
  
4.0 mL
  
1.0 mL
  

Lavender (EDTA), 4mL

  

Ambient (preferred) - 5 days

Refrigerated  – 5 days

Frozen – NO

  
Medical Neurogenetic (MOL229) via LabCorp (620084): R-NX
  
Mo - Fr
  
14 - 28 days
  

Repeat-primed PCR (QP-PCR)

  

# of repeats

  

Maximum reportable sizing: 150 repeats

  
81234
  
Result UNLOINC
  
05/24/2019
  
05/11/2020
  
05/18/2020